{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1819","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1817","results":[{"created":"2020-04-27T20:45:14.745201+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC9 were set to ","entity_name":"EXOSC9","entity_type":"gene"},{"created":"2020-04-27T20:44:45.714416+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC9","entity_type":"gene"},{"created":"2020-04-27T20:44:18.739694+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXOSC9 as Amber List (moderate evidence)","entity_name":"EXOSC9","entity_type":"gene"},{"created":"2020-04-27T20:44:18.725784+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc9 has been classified as Amber List (Moderate Evidence).","entity_name":"EXOSC9","entity_type":"gene"},{"created":"2020-04-27T20:42:59.212138+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A46 as ready","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-04-27T20:42:59.200890+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a46 has been classified as Green List (High Evidence).","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-04-27T20:42:54.609811+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from  to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-04-27T20:42:27.094591+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A46 were set to ","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-04-27T20:41:58.784784+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-04-27T20:40:50.787576+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETD2 as ready","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T20:40:50.774153+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd2 has been classified as Amber List (Moderate Evidence).","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T20:40:47.574193+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SETD2 were changed from  to Luscan-Lumish syndrome (MIM#616831)","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T20:40:24.907818+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SETD2 were set to ","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T20:39:55.741549+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T20:39:29.458700+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SETD2 as Amber List (moderate evidence)","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T20:39:29.449529+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd2 has been classified as Amber List (Moderate Evidence).","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T20:38:17.645549+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB11B as ready","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T20:38:17.636993+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11b has been classified as Amber List (Moderate Evidence).","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T20:38:15.249110+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB11B were changed from  to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T20:37:42.405792+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB11B were set to ","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T20:37:14.262569+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T20:36:51.787655+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB11B as Amber List (moderate evidence)","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T20:36:51.776599+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11b has been classified as Amber List (Moderate Evidence).","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T20:35:36.545705+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PUS3 as ready","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T20:35:36.535080+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pus3 has been classified as Red List (Low Evidence).","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T20:34:09.208379+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUS3 were changed from  to Mental retardation, autosomal recessive 55 (MIM#617051)","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T20:33:40.548915+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PUS3 were set to ","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T20:33:16.330861+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T20:32:53.065665+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PUS3 as Red List (low evidence)","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T20:32:53.052477+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pus3 has been classified as Red List (Low Evidence).","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T18:45:44.883706+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAT as ready","entity_name":"LAT","entity_type":"gene"},{"created":"2020-04-27T18:45:44.874917+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lat has been classified as Green List (High Evidence).","entity_name":"LAT","entity_type":"gene"},{"created":"2020-04-27T18:45:39.469094+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAT as Green List (high evidence)","entity_name":"LAT","entity_type":"gene"},{"created":"2020-04-27T18:45:39.457205+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lat has been classified as Green List (High Evidence).","entity_name":"LAT","entity_type":"gene"},{"created":"2020-04-27T18:45:28.435076+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAT was added\ngene: LAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAT were set to 27242165; 27522155\nPhenotypes for gene: LAT were set to Immunodeficiency 52, MIM#\t617514\nReview for gene: LAT was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"LAT","entity_type":"gene"},{"created":"2020-04-27T18:43:17.706935+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SPNS1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-04-27T16:45:05.474865+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PUS3: Rating: RED; Mode of pathogenicity: None; Publications: 27055666, 30308082, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55 (MIM#617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PUS3","entity_type":"gene"},{"created":"2020-04-27T16:23:58.710761+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-04-27T15:54:07.257924+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2635","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic variants cause galactosialidosis, and mono-allelic variants cause CARASAL.; to: Bi-allelic variants associated with galactosialidosis, and mono-allelic variants associated with CARASAL.","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-27T15:53:35.840414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2635","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31177426; Phenotypes: Galactosialidosis, MIM# 256540, Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-27T15:41:09.942537+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTC1 as ready","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-04-27T15:41:09.933014+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctc1 has been classified as Green List (High Evidence).","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-04-27T15:41:04.892632+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTC1 as Green List (high evidence)","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-04-27T15:41:04.880145+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctc1 has been classified as Green List (High Evidence).","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-04-27T15:40:55.621384+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTC1 was added\ngene: CTC1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTC1 were set to 22267198; 22387016\nPhenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM#\t612199\nReview for gene: CTC1 was set to GREEN\nAdded comment: Onset typically in infancy/childhood with intracranial calcifications, leukoencephalopathy, and early-onset retinal changes, associated with extra-neurologic manifestations including early-onset bone fractures, gastrointestinal ectasia, and variable hair, nail, and skin changes, and/or anemia. \nSources: Expert list","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-04-27T15:07:54.224041+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31643139, 31474318, 26084711; Phenotypes: Luscan-Lumish syndrome (MIM#616831); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SETD2","entity_type":"gene"},{"created":"2020-04-27T14:16:30.589539+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543974, 28637197, 28376086, 26168012; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-04-27T13:49:00.023185+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC9","entity_type":"gene"},{"created":"2020-04-27T13:47:24.375851+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2598","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CEBALID syndrome, MIM#618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MN1","entity_type":"gene"},{"created":"2020-04-27T13:43:48.225639+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AUH as ready","entity_name":"AUH","entity_type":"gene"},{"created":"2020-04-27T13:43:48.216875+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auh has been classified as Green List (High Evidence).","entity_name":"AUH","entity_type":"gene"},{"created":"2020-04-27T13:43:43.905048+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AUH as Green List (high evidence)","entity_name":"AUH","entity_type":"gene"},{"created":"2020-04-27T13:43:43.896873+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auh has been classified as Green List (High Evidence).","entity_name":"AUH","entity_type":"gene"},{"created":"2020-04-27T13:43:34.119246+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM# 250950\nReview for gene: AUH was set to GREEN\nAdded comment: Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels. \nSources: Expert list","entity_name":"AUH","entity_type":"gene"},{"created":"2020-04-27T13:39:15.065474+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APOPT1 as ready","entity_name":"APOPT1","entity_type":"gene"},{"created":"2020-04-27T13:39:15.054202+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apopt1 has been classified as Green List (High Evidence).","entity_name":"APOPT1","entity_type":"gene"},{"created":"2020-04-27T13:39:10.540716+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APOPT1 as Green List (high evidence)","entity_name":"APOPT1","entity_type":"gene"},{"created":"2020-04-27T13:39:10.531604+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apopt1 has been classified as Green List (High Evidence).","entity_name":"APOPT1","entity_type":"gene"},{"created":"2020-04-27T13:39:02.596758+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APOPT1 was added\ngene: APOPT1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APOPT1 were set to 25175347\nPhenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM# 220110\nReview for gene: APOPT1 was set to GREEN\nAdded comment: Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood. \nSources: Expert list","entity_name":"APOPT1","entity_type":"gene"},{"created":"2020-04-27T13:32:37.793412+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC5 as ready","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:32:37.789074+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Pre-print","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:32:37.753764+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc5 has been classified as Amber List (Moderate Evidence).","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:32:33.219067+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC5 were changed from  to Developmental delays, short stature, cerebellar hypoplasia and motor weakness","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:32:09.782365+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC5 were set to ","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:30:57.605879+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:29:59.884050+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXOSC5 as Amber List (moderate evidence)","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:29:59.874830+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc5 has been classified as Amber List (Moderate Evidence).","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:28:22.354034+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMPD4 as ready","entity_name":"SMPD4","entity_type":"gene"},{"created":"2020-04-27T13:28:22.344662+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2020-04-27T13:28:17.119406+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMPD4 as Green List (high evidence)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2020-04-27T13:28:17.107809+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2020-04-27T13:27:17.295466+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX3X as ready","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:27:17.285787+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx3x has been classified as Amber List (Moderate Evidence).","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:27:14.265211+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX3X were changed from  to Mental retardation, X-linked 102, MIM# 300958","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:26:27.004191+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX3X were set to ","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:26:25.569458+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.61","user_name":"Elena Savva","item_type":"entity","text":"changed review comment from: No phenotype association in OMIM, emerging gene with a single paper\r\n\r\n3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis; to: No phenotype association in OMIM, emerging gene with a single paper\r\n\r\n3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis\r\n\r\nSummary: 2/3 patients have cerebellar/vermis hypoplasia","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:25:50.213926+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.61","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1101/2020.04.01.839274; Phenotypes: Developmental delays, short stature, cerebellar hypoplasia and motor weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC5","entity_type":"gene"},{"created":"2020-04-27T13:25:16.978588+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDX3X was changed from Unknown to Other","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:24:08.798144+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDX3X as Amber List (moderate evidence)","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:24:08.788658+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx3x has been classified as Amber List (Moderate Evidence).","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:23:40.066107+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: 30936465; Phenotypes: Mental retardation, X-linked 102, MIM# 300958; Mode of inheritance: Other","entity_name":"DDX3X","entity_type":"gene"},{"created":"2020-04-27T13:16:20.361183+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNX14","entity_type":"gene"},{"created":"2020-04-27T13:15:58.152122+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNX14 as ready","entity_name":"SNX14","entity_type":"gene"},{"created":"2020-04-27T13:15:58.141827+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snx14 has been classified as Green List (High Evidence).","entity_name":"SNX14","entity_type":"gene"},{"created":"2020-04-27T13:15:08.479178+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNX14 as Green List (high evidence)","entity_name":"SNX14","entity_type":"gene"},{"created":"2020-04-27T13:15:08.468061+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snx14 has been classified as Green List (High Evidence).","entity_name":"SNX14","entity_type":"gene"},{"created":"2020-04-27T13:13:48.901199+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCK as ready","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:13:48.897213+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree, uncertain about whether reported findings truly reflect cerebellar/pontocerebellar hypoplasia.","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:13:48.860442+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbck has been classified as Amber List (Moderate Evidence).","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:13:02.196938+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCK as ready","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:13:02.188233+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbck has been classified as Amber List (Moderate Evidence).","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:12:46.045182+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBCK were changed from  to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900)","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:12:18.284446+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBCK were set to ","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:11:49.307946+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:11:15.340465+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBCK as Amber List (moderate evidence)","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:11:15.329280+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbck has been classified as Amber List (Moderate Evidence).","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-27T13:09:07.957503+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DKC1 as ready","entity_name":"DKC1","entity_type":"gene"},{"created":"2020-04-27T13:09:07.947899+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dkc1 has been classified as Green List (High Evidence).","entity_name":"DKC1","entity_type":"gene"},{"created":"2020-04-27T13:09:04.233862+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DKC1 as Green List (high evidence)","entity_name":"DKC1","entity_type":"gene"},{"created":"2020-04-27T13:09:04.224608+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dkc1 has been classified as Green List (High Evidence).","entity_name":"DKC1","entity_type":"gene"}]}